Engelsk definition
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Aciduria, Argininosuccinic — Acidurias, Argininosuccinic — Argininosuccinic Acidurias — Argininosuccinase Deficiency — Argininosuccinate Acidemia — Acidemia, Argininosuccinate — Acidemias, Argininosuccinate — Argininosuccinate Acidemias — Argininosuccinate Lyase Deficiency — Argininosuccinate Lyase Deficiencies — Deficiencies, Argininosuccinate Lyase — Deficiency, Argininosuccinate Lyase — Argininosuccinic Acid Lyase Deficiency — Argininosuccinicaciduria — Argininosuccinicacidurias — ASA Deficiency — ASA Deficiencies — Deficiencies, ASA — Deficiency, ASA — ASL Deficiency — ASL Deficiencies — Deficiencies, ASL — Deficiency, ASL — Inborn Error of Urea Synthesis, Arginino Succinic Type — Urea Cycle Disorder, Arginino Succinase Type — Argininosuccinic Acidemia — Argininosuccinyl-Coa Lyase Deficiency — Arginosuccinase Deficiency — Asauria — Arginino Succinase Deficiency — Arginino Succinase Deficiencies — Deficiencies, Arginino Succinase — Deficiency, Arginino Succinase